{"id":144252,"date":"2022-04-07T01:48:23","date_gmt":"2022-04-07T01:48:23","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e6%96%b0%e7%94%9f%e5%85%92%e7%af%a9%e6%aa%a2%e6%98%af%e5%90%a6%e6%87%89%e5%8c%85%e6%8b%ac15q%e6%9f%93%e8%89%b2%e9%ab%94%e7%96%be%e6%82%a3%ef%bc%9f\/"},"modified":"2026-01-19T07:14:42","modified_gmt":"2026-01-19T07:14:42","slug":"should-newborn-screening-include-chromosome-15q-disorders","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/zhtw\/disease-area\/newborn-screening\/should-newborn-screening-include-chromosome-15q-disorders\/","title":{"rendered":"\u65b0\u751f\u5152\u7be9\u6aa2\u662f\u5426\u61c9\u5305\u62ec15q\u67d3\u8272\u9ad4\u75be\u60a3\uff1f"},"content":{"rendered":"

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\u7814\u7a76\u548c\u5021\u5c0e\u5718\u9ad4Prader-Willi Research (FPWR)\u57fa\u91d1\u6703\u7684\u7814\u7a76\u4e3b\u4efbTheresa Strong\u535a\u58eb\u8aaa\uff1a\u300cPWS Global Registry\u7684\u8cc7\u6599\u8868\u660e\uff0c\u5728\u7f8e\u570b\uff0c\u5927\u7d0420%\u7684PWS\u75c5\u4f8b\u6c92\u6709\u53ca\u65e9\u767c\u73fe\u3002\u300d<\/p>\n

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\u6709\u54ea\u4e9b\u6a5f\u9047\u548c\u6311\u6230\uff1f<\/h2>\n

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Godler\u535a\u58eb\u88dc\u5145\u8aaa\uff1a\u300c\u6211\u5011\u9084\u767c\u73fe\uff0c\u7531\u65bc\u55ae\u89aa\u6027\u5931\u8abf\uff08PWS\u7684\u4e9e\u578b\uff09\uff0cPWS\u53d7\u5f71\u97ff\u7684\u5152\u7ae5\u6bd4\u4f8b\u73fe\u5728\u7d04\u70ba10\u5e74\u524d\u7684\u4e00\u534a\uff0c\u7576\u6642\u7d04\u70ba30%\u3002\u300d\u300c\u9019\u610f\u5473\u8457NIPT\u7b49\u66ff\u4ee3\u57fa\u56e0\u9ad4\u6aa2\u6e2c\u5728\u5f88\u5927\u7a0b\u5ea6\u4e0a\u50c5\u9650\u65bc\u8fa8\u8b58\u5f15\u8d77PWS\u548cAS\u7684\u7f3a\u5931\uff0c\u4e26\u4e14\u5c07\u932f\u904e\u5927\u91cf\u5c07\u900f\u904e\u7532\u57fa\u5316\u6aa2\u6e2c\u8fa8\u8b58\u7684\u53d7\u5f71\u97ff\u7684\u500b\u9ad4\u3002\u300d<\/p>\n

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\u5373\u4f7f\u5982\u6b64\uff0cGodler\u91ab\u5e2b\u627f\u8a8d\uff0c\u9700\u8981\u66f4\u591a\u8b49\u64da\u624d\u80fd\u771f\u6b63\u8a55\u4f30\u5e38\u898fNBS\u7528\u65bc15q\u969c\u7919\u7684\u6210\u672c\u6548\u76ca\u3002\u7136\u800c\uff0c\u9451\u65bc\u9072\u767c\u6216\u6f0f\u8a3a\u7684\u53ef\u80fd\u6027\u8feb\u5728\u7709\u776b\uff0c\u4e26\u4e14\u6b63\u5728\u958b\u767c\u65b0\u7684\u85e5\u7269\u4f86\u6cbb\u764215q\u969c\u7919\uff0c\u5e38\u898fNBS\u53ef\u80fd\u6210\u70ba\u904a\u6232\u898f\u5247\u7684\u6539\u8b8a\u8005\uff0c\u4ee5\u6539\u5584\u7f79\u60a3\u9019\u4e9b\u75be\u75c5\u4e4b\u500b\u9ad4\uff0c\u4ee5\u53ca\u4ed6\u5011\u7684\u5bb6\u5ead\u548c\u885b\u751f\u7cfb\u7d71\u7684\u7d50\u679c\u3002<\/p>\n

\u672c\u6587\u70ba\u65b0\u751f\u5152\u7be9\u6aa2\u8207\u7f55\u898b\u75c5\u8a3a\u65b7\u7cfb\u5217\u7684\u7b2c\u4e00\u7bc7\u3002\u5982\u9700\u6709\u95dc\u672c\u7cfb\u5217\u7684\u66f4\u591a\u8cc7\u8a0a\uff0c\u8acb\u900f\u904ewill.greene@roche.com\u806f\u7d61Will Greene\uff0c\u91ab\u7642\u4e8b\u52d9\u7d93\u7406 (\u4e9e\u592a\u5730\u5340\uff09\u3002<\/em><\/p>\n

\u53c3\u8003\u6587\u737b:<\/em><\/p>\n

[1]<\/a> Godler DE\uff0cLing L\uff0cGamage D\uff0c\u7b49\u4eba\u3002\u85c9\u7531\u4f7f\u7528\u65b0\u57fa\u56e0\u9ad4\u5de5\u4f5c\u6d41\u7a0b\u572816 579\u540d\u65b0\u751f\u5152\u4e2d\u7be9\u67e515\u865f\u67d3\u8272\u9ad4\u5370\u8a18\u75c5\u75c7\u7684\u53ef\u884c\u6027\u3002JAMA Netw\u5df2\u958b\u555f\u30022022\uff1b5(1)\uff1ae2141911\u3002 doi\uff1a10.1001\/jamanetworkopen.2021.41911<\/p>\n

[2]<\/a>\u00a0FPWR\u3001FAST\u3001ASF\u548cDuq15q Unite to Fund Newborn Screening Grant\uff0cFoundation for Prader-Willi Research\uff0c\u8acb\u9020\u8a2a\uff1a<https:\/\/www.fpwr.org\/blog\/fast-asf-dup15q-and-fpwr-unite-to-fund-newborn-screening-grant><\/p>\n

[3]<\/a>\u00a0NBS\u6982\u8ff0\u53ca\u4e39\u5c3c\u723e\u00b7\u5fb7\u91cc\u65af\u79d1\u723e\u6559\u6388\u5728\u570b\u969bPrader-Willi\u75c7\u5019\u7fa4\u7d44\u7e54\u65b0\u751f\u5152\u7be9\u6aa2Prader-Willi\u75c7\u5019\u7fa4\u53ca\u5176\u4ed615\u865f\u67d3\u8272\u9ad4\u7570\u5e38\u5cf0\u6703\u4e0a\u5c0dPWS\u7684\u7c21\u8981\u8a0e\u8ad6\u3002\u00a0\u8acb\u9020\u8a2a\uff1a<https:\/\/www.youtube.com\/watch?v=dlKNKJX8BGQ&t=4s><\/p>\n

[4]<\/a> \u00a0\u570b\u969b\u666e\u62c9\u5fb7-\u5a01\u5229\u75c7\u5019\u7fa4\u7d44\u7e54\u65b0\u751f\u5152\u666e\u745e\u5fb7-\u5a01\u5229\u75c7\u5019\u7fa4\u7be9\u6aa2\u5cf0\u6703\u4e0a\uff0c\u00a0\u7531\u526f\u6559\u6388\u5927\u885b\u00b7\u6208\u5fb7\u52d2\u5c0d15\u65b0\u751f\u5152\u9032\u884c\u666e\u745e\u5fb7-\u5a01\u5229\u75c7\u5019\u7fa4\u7be9\u6aa2\u3002\u8acb\u9020\u8a2a\uff1a<https:\/\/www.youtube.com\/watch?v=9esfE26uLrI><\/p>\n","protected":false},"excerpt":{"rendered":"

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